NM_002880.4(RAF1):c.769T>A (p.Ser257Thr) AND RASopathy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001869023.5
Allele description [Variation Report for NM_002880.4(RAF1):c.769T>A (p.Ser257Thr)]
NM_002880.4(RAF1):c.769T>A (p.Ser257Thr)
Condition(s)
- Name:
- RASopathy
- Synonyms:
- rasopathies; Noonan spectrum disorder
- Identifiers:
- MONDO: MONDO:0021060; MedGen: C5555857
Assertion and evidence details
Last Updated: Mar 5, 2024